Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 0 0